Some patients require radiofrequency catheter ablation (RFCA) within the coronary sinus (CS) to eliminate conduction through accessory pathways (APs). A 23-year-old man was diagnosed with atrioventricular reentrant tachycardia (AVRT) utilizing a left-sided AP as the retrograde limb and was successfully treated by RFCA within the CS. Following the RFCA, another form of narrow QRS complex tachycardia was observed, and an electrophysiology study revealed the tachycardia as reentrant atrial tachycardia (AT) involving the CS. RFCA within the CS successfully terminated the tachycardia. This is the first case of iatrogenic reentrant AT secondary to RFCA for AVRT.
Learning objective
Radiofrequency catheter ablation (RFCA) is the standard treatment for atrioventricular reentrant tachycardia (AVRT) caused by accessory pathways. This case highlights that patients with AVRT who have undergone extensive RF applications may develop recurrent reentrant atrial tachycardia. Operators need to be aware that extensive RF applications can generate arrhythmogenic substrates, even in patients with AVRT.
{"title":"Reentrant atrial tachycardia after catheter ablation of coronary sinus accessory pathway","authors":"Koichi Watanabe MD, Hidehiro Iwakawa MD, PhD, Ken Terata MD, PhD, FJCC, Hiroyuki Watanabe MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.05.004","DOIUrl":"10.1016/j.jccase.2025.05.004","url":null,"abstract":"<div><div>Some patients require radiofrequency catheter ablation (RFCA) within the coronary sinus (CS) to eliminate conduction through accessory pathways (APs). A 23-year-old man was diagnosed with atrioventricular reentrant tachycardia (AVRT) utilizing a left-sided AP as the retrograde limb and was successfully treated by RFCA within the CS. Following the RFCA, another form of narrow QRS complex tachycardia was observed, and an electrophysiology study revealed the tachycardia as reentrant atrial tachycardia (AT) involving the CS. RFCA within the CS successfully terminated the tachycardia. This is the first case of iatrogenic reentrant AT secondary to RFCA for AVRT.</div></div><div><h3>Learning objective</h3><div>Radiofrequency catheter ablation (RFCA) is the standard treatment for atrioventricular reentrant tachycardia (AVRT) caused by accessory pathways. This case highlights that patients with AVRT who have undergone extensive RF applications may develop recurrent reentrant atrial tachycardia. Operators need to be aware that extensive RF applications can generate arrhythmogenic substrates, even in patients with AVRT.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 2","pages":"Pages 83-86"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Persistent fifth aortic arch (PFAA) is a rare congenital heart disease caused by maldevelopment of the primitive aortic arch and can cause obstruction of the aortic arch. The histological structure of a fifth aortic arch differs from that of normal aortic arches. Therefore, it is unclear whether the tissue of a fifth aortic arch can be safely utilized to reconstruct the aortic arch during surgical repair of arch obstruction. We herein report the case of a neonate who underwent surgical repair of a PFAA with interrupted aortic arch, right aortic arch, and aberrant left subclavian artery. Similar to those for a ductus arteriosus, the histological findings of the resected PFAA in this case showed intimal thickening, myxoid deposition in the intima and media, and proliferation and migration of smooth muscle cells into the intima. When reconstructing the aortic arch, we suggest that, if possible, the fifth aortic arch tissue be resected.
Learning objective
The histological findings of a persistent fifth aortic arch (PFAA) are important in determining the treatment strategy because the tissue may be unsuitable for reconstruction of the aortic arch. In the present case, the tissue of the PFAA was histologically similar to that of a ductus arteriosus and thus may have caused re-stenosis or formation of an aneurysm in the future. We therefore recommend resecting the PFAA tissue during aortic arch reconstruction.
{"title":"Histological investigation of persistent fifth aortic arch with arch obstruction in a neonate","authors":"Seiji Asagai MD, PhD , Takeshi Shinkawa MD, PhD , Saeko Yoshizawa MD, PhD , Kei Inai MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.04.009","DOIUrl":"10.1016/j.jccase.2025.04.009","url":null,"abstract":"<div><div>Persistent fifth aortic arch (PFAA) is a rare congenital heart disease caused by maldevelopment of the primitive aortic arch and can cause obstruction of the aortic arch. The histological structure of a fifth aortic arch differs from that of normal aortic arches. Therefore, it is unclear whether the tissue of a fifth aortic arch can be safely utilized to reconstruct the aortic arch during surgical repair of arch obstruction. We herein report the case of a neonate who underwent surgical repair of a PFAA with interrupted aortic arch, right aortic arch, and aberrant left subclavian artery. Similar to those for a ductus arteriosus, the histological findings of the resected PFAA in this case showed intimal thickening, myxoid deposition in the intima and media, and proliferation and migration of smooth muscle cells into the intima. When reconstructing the aortic arch, we suggest that, if possible, the fifth aortic arch tissue be resected.</div></div><div><h3>Learning objective</h3><div>The histological findings of a persistent fifth aortic arch (PFAA) are important in determining the treatment strategy because the tissue may be unsuitable for reconstruction of the aortic arch. In the present case, the tissue of the PFAA was histologically similar to that of a ductus arteriosus and thus may have caused re-stenosis or formation of an aneurysm in the future. We therefore recommend resecting the PFAA tissue during aortic arch reconstruction.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 2","pages":"Pages 66-69"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-08-01DOI: 10.1016/j.jccase.2025.05.002
Nawaf Alhabdan MD , Rafey Feroze MD , Marco Frazzetto MD , Nour Tashtish MD , Luis Augusto Palma Dallan MD, PhD , Steven J. Filby MD
Pericardial effusion is a serious complication following percutaneous left atrial appendage occlusion and is associated with adverse outcomes. While acute effusions occur from procedure associated macro-perforations, delayed effusions are less well understood. Reported here is a case of a hemorrhagic pericardial effusion presenting almost 6 months following left atrial appendage occlusion and successfully treated with corticosteroids.
Learning objective
Delayed pericardial effusions following left atrial appendage occlusion occur due to microperforations. These pericardial effusions can cause hemopericardium and pericardial inflammation. Anti-inflammatory therapy may promote resolution and prevent adverse sequalae.
{"title":"Very delayed hemorrhagic pericardial effusion following percutaneous left atrial appendage occlusion","authors":"Nawaf Alhabdan MD , Rafey Feroze MD , Marco Frazzetto MD , Nour Tashtish MD , Luis Augusto Palma Dallan MD, PhD , Steven J. Filby MD","doi":"10.1016/j.jccase.2025.05.002","DOIUrl":"10.1016/j.jccase.2025.05.002","url":null,"abstract":"<div><div>Pericardial effusion is a serious complication following percutaneous left atrial appendage occlusion and is associated with adverse outcomes. While acute effusions occur from procedure associated macro-perforations, delayed effusions are less well understood. Reported here is a case of a hemorrhagic pericardial effusion presenting almost 6 months following left atrial appendage occlusion and successfully treated with corticosteroids.</div></div><div><h3>Learning objective</h3><div>Delayed pericardial effusions following left atrial appendage occlusion occur due to microperforations. These pericardial effusions can cause hemopericardium and pericardial inflammation. Anti-inflammatory therapy may promote resolution and prevent adverse sequalae.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 2","pages":"Pages 75-78"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144750579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 70-year-old man underwent dual-chamber pacemaker implantation for symptomatic tachycardia–bradycardia syndrome. The right ventricular (RV) lead was screwed into the RV high septum with a nondeflectable delivery catheter. Two months after implantation, the RV lead perforated through the left ventricular free wall (LVFW) and was identified via computed tomography. The patient underwent open chest surgery. The RV lead was extracted, and a new lead was reinserted at the RV apex after suturing the perforated wounds. Intraoperatively, the extracted lead perforated LVFW beside the first diagonal branch of the left anterior descending artery through the RV septum and the left intraventricular wall instead of the LV cavity. These findings support that the bloody pericardial effusion due to LV perforation in this case originated from RV venous blood but not LV arterial blood and resulted in cardiac perforation of the oozing type instead of the blowout type. The patient was discharged on day 15 post operation, and the patient's situation has been uneventful for a year.
Learning objective
This is a rare case of delayed cardiac tamponade from left ventricular (LV) free wall perforation by a right ventricular (RV) septal lead involving both the RV septum and left intraventricular wall. Appropriate lead management and anatomical understanding are necessary to avoid such complications. If LV free wall perforation and cardiac tamponade are noted, an open surgical procedure for lead removal should be considered as the preferred therapeutic option.
{"title":"Delayed cardiac tamponade resulting from left ventricular free wall perforation caused by a right ventricular septal pacemaker lead: A case report","authors":"Ryo Nishinarita MD, PhD , Kenshiro Arao MD, PhD, FJCC , Kei Akiyoshi MD , Uiri Ohki MD , Yae Ota MD , Hisashi Sato MD , Yusuke Tamanaha MD , Takaaki Mase MD , Yuichiro Kitada MD , Yonosuke Wada MD , Homare Okamura MD, PhD","doi":"10.1016/j.jccase.2025.03.002","DOIUrl":"10.1016/j.jccase.2025.03.002","url":null,"abstract":"<div><div>A 70-year-old man underwent dual-chamber pacemaker implantation for symptomatic tachycardia–bradycardia syndrome. The right ventricular (RV) lead was screwed into the RV high septum with a nondeflectable delivery catheter. Two months after implantation, the RV lead perforated through the left ventricular free wall (LVFW) and was identified via computed tomography. The patient underwent open chest surgery. The RV lead was extracted, and a new lead was reinserted at the RV apex after suturing the perforated wounds. Intraoperatively, the extracted lead perforated LVFW beside the first diagonal branch of the left anterior descending artery through the RV septum and the left intraventricular wall instead of the LV cavity. These findings support that the bloody pericardial effusion due to LV perforation in this case originated from RV venous blood but not LV arterial blood and resulted in cardiac perforation of the oozing type instead of the blowout type. The patient was discharged on day 15 post operation, and the patient's situation has been uneventful for a year.</div></div><div><h3>Learning objective</h3><div>This is a rare case of delayed cardiac tamponade from left ventricular (LV) free wall perforation by a right ventricular (RV) septal lead involving both the RV septum and left intraventricular wall. Appropriate lead management and anatomical understanding are necessary to avoid such complications. If LV free wall perforation and cardiac tamponade are noted, an open surgical procedure for lead removal should be considered as the preferred therapeutic option.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 1-4"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144517727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The prognosis of tetralogy of Fallot (TOF) has improved in recent years, but complications in the late postoperative period remain a serious problem. These complications, combined with specific hemodynamic and structural abnormalities, make it difficult to determine the optimal treatment plan. A man in his early 60s had been diagnosed with TOF in his early teens; he had undergone ventricular septal defect closure and right ventricular outflow tract repair in his mid-20s. Approximately 40 years after surgery, he was referred to our hospital because of worsening heart failure due to moderate aortic regurgitation with left ventricular dysfunction caused by a residual ventricular septal defect, marked continuous right ventricular dilation and dysfunction, and severe pulmonary and tricuspid regurgitation. The patient had clearly missed the optimal time for surgery and had a high surgical risk score. After the patient had been provided sufficient information regarding treatment and risks, he underwent pulmonary and aortic valve replacement, tricuspid annuloplasty, and shunt closure. No obvious perioperative complications were observed, and the heart failure had remained stable for 4 years following reoperation. We report this complicated case of TOF repaired in adulthood with marked biventricular remodeling, associated with a residual shunt and progression of valvular disease.
Learning objective
Surgical interventions for the multiple complications that occur during the long-term course after TOF repair, particularly in the context of right ventricular remodeling, may be associated with risks. In the field of adult congenital heart disease, rather than applying a single cut-off to determine the optimal timing for intervention, clinicians should consider factors such as the patients' age, sex, and other individual characteristics, paying particular attention to the hemodynamic status.
{"title":"A case of heart failure due to multiple late complications after repair of tetralogy of Fallot in adulthood","authors":"Chiaki Goten MD, PhD , Soichiro Usui MD, PhD , Osamu Takatori MD, PhD , Kenji Sakata MD, PhD , Akira Murata MD, PhD , Hirofumi Takemura MD, PhD , Masayuki Takamura MD, PhD","doi":"10.1016/j.jccase.2025.03.010","DOIUrl":"10.1016/j.jccase.2025.03.010","url":null,"abstract":"<div><div>The prognosis of tetralogy of Fallot (TOF) has improved in recent years, but complications in the late postoperative period remain a serious problem. These complications, combined with specific hemodynamic and structural abnormalities, make it difficult to determine the optimal treatment plan. A man in his early 60s had been diagnosed with TOF in his early teens; he had undergone ventricular septal defect closure and right ventricular outflow tract repair in his mid-20s. Approximately 40 years after surgery, he was referred to our hospital because of worsening heart failure due to moderate aortic regurgitation with left ventricular dysfunction caused by a residual ventricular septal defect, marked continuous right ventricular dilation and dysfunction, and severe pulmonary and tricuspid regurgitation. The patient had clearly missed the optimal time for surgery and had a high surgical risk score. After the patient had been provided sufficient information regarding treatment and risks, he underwent pulmonary and aortic valve replacement, tricuspid annuloplasty, and shunt closure. No obvious perioperative complications were observed, and the heart failure had remained stable for 4 years following reoperation. We report this complicated case of TOF repaired in adulthood with marked biventricular remodeling, associated with a residual shunt and progression of valvular disease.</div></div><div><h3>Learning objective</h3><div>Surgical interventions for the multiple complications that occur during the long-term course after TOF repair, particularly in the context of right ventricular remodeling, may be associated with risks. In the field of adult congenital heart disease, rather than applying a single cut-off to determine the optimal timing for intervention, clinicians should consider factors such as the patients' age, sex, and other individual characteristics, paying particular attention to the hemodynamic status.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 23-26"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-07-01DOI: 10.1016/j.jccase.2025.04.003
Takayuki Sekihara MD, Takafumi Oka MD, PhD, Akira Yoshida MD, PhD, Yasushi Sakata MD, PhD, FJCC
We present a case of congestive heart failure with reduced ejection fraction complicated by atrial tachycardia and an oral anticoagulation-resistant left atrial appendage (LAA) thrombus. The LAA thrombus prevented sinus rhythm restoration, and the ventricular rate control was also difficult. Cardiac resynchronization therapy (CRT)-defibrillator implantation followed by atrioventricular nodal ablation was performed, and the patient's congestive heart failure improved. Furthermore, the resolution of the LAA thrombus was achieved three months after the implantation. The atrial tachycardia was eliminated by catheter ablation thereafter. This case highlights the importance of improving congestive heart failure for the resolution of LAA thrombus and the potential usefulness of CRT with atrioventricular nodal ablation for this strategy.
Learning objective
Treatment strategies for patients with decompensated congestive heart failure are difficult, especially when complicated by atrial tachyarrhythmia and left atrial thrombus. Cardiac resynchronization therapy with atrioventricular nodal ablation may be a possible solution not only for the improvement of heart failure but also for the resolution of left atrial thrombus.
{"title":"Resolution of oral anticoagulation-resistant left atrial appendage thrombus by cardiac resynchronization therapy and atrioventricular nodal ablation","authors":"Takayuki Sekihara MD, Takafumi Oka MD, PhD, Akira Yoshida MD, PhD, Yasushi Sakata MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.04.003","DOIUrl":"10.1016/j.jccase.2025.04.003","url":null,"abstract":"<div><div>We present a case of congestive heart failure with reduced ejection fraction complicated by atrial tachycardia and an oral anticoagulation-resistant left atrial appendage (LAA) thrombus. The LAA thrombus prevented sinus rhythm restoration, and the ventricular rate control was also difficult. Cardiac resynchronization therapy (CRT)-defibrillator implantation followed by atrioventricular nodal ablation was performed, and the patient's congestive heart failure improved. Furthermore, the resolution of the LAA thrombus was achieved three months after the implantation. The atrial tachycardia was eliminated by catheter ablation thereafter. This case highlights the importance of improving congestive heart failure for the resolution of LAA thrombus and the potential usefulness of CRT with atrioventricular nodal ablation for this strategy.</div></div><div><h3>Learning objective</h3><div>Treatment strategies for patients with decompensated congestive heart failure are difficult, especially when complicated by atrial tachyarrhythmia and left atrial thrombus. Cardiac resynchronization therapy with atrioventricular nodal ablation may be a possible solution not only for the improvement of heart failure but also for the resolution of left atrial thrombus.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 43-46"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 71-year-old woman was diagnosed with a subacute myocardial infarction caused by an obstruction in the middle segment of the right coronary artery. Two hours after successful percutaneous coronary intervention, bedside transthoracic echocardiography revealed an interventricular septal perforation. Three hours later, the patient developed cardiac tamponade. An emergency pericardiocentesis was performed, which promptly restored hemodynamic stability. Echocardiographic findings suggested oozing from a minor perforation of the postinfarct inferior wall. Subsequent cardiac magnetic resonance imaging identified a basal inferoposterior septal perforation connected with an intramyocardial dissection. After intensive medical management, the patient gradually recovered and was discharged on the 135th day of admission. Five years of follow-up were uneventful with optimal medication therapy.
Learning objective
- Ventricular septal perforation following a myocardial infarction can result in intramyocardial dissection, which may extend to the epicardium and eventually lead to cardiac tamponade.
- Physicians should individualize treatment strategies for each patient based on various factors, especially in cases with rare and complex post-infarct complications.
- Advanced imaging techniques are recommended for assessing complex mechanical complications following a myocardial infarction.
{"title":"Long-term surviving intramyocardial dissection following ventricular septal perforation secondary to inferior myocardial infarction with non-surgical treatment","authors":"Minh Thien Nguyen MD, Takashi Fujimura MD, Masataka Kajiwara MD, Shunichiro Tomita MD, Toshio Katagiri MD, Tadashi Yamamoto MD, Yuji Hirai MD, PhD, Hiroyuki Tsutsui MD, PhD","doi":"10.1016/j.jccase.2025.04.006","DOIUrl":"10.1016/j.jccase.2025.04.006","url":null,"abstract":"<div><div>A 71-year-old woman was diagnosed with a subacute myocardial infarction caused by an obstruction in the middle segment of the right coronary artery. Two hours after successful percutaneous coronary intervention, bedside transthoracic echocardiography revealed an interventricular septal perforation. Three hours later, the patient developed cardiac tamponade. An emergency pericardiocentesis was performed, which promptly restored hemodynamic stability. Echocardiographic findings suggested oozing from a minor perforation of the postinfarct inferior wall. Subsequent cardiac magnetic resonance imaging identified a basal inferoposterior septal perforation connected with an intramyocardial dissection. After intensive medical management, the patient gradually recovered and was discharged on the 135th day of admission. Five years of follow-up were uneventful with optimal medication therapy.</div></div><div><h3>Learning objective</h3><div>- Ventricular septal perforation following a myocardial infarction can result in intramyocardial dissection, which may extend to the epicardium and eventually lead to cardiac tamponade.</div><div>- Physicians should individualize treatment strategies for each patient based on various factors, especially in cases with rare and complex post-infarct complications.</div><div>- Advanced imaging techniques are recommended for assessing complex mechanical complications following a myocardial infarction.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 39-42"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Holt-Oram syndrome (HOS; OMIM 142900) is a rare autosomal dominant disorder, typically involving upper limb anomalies and cardiac septal defects. HOS is caused by mutations in the TBX5 gene, which encodes a T-box transcription factor. We report a Japanese family with a novel TBX5-Q469* nonsense variant that exhibited atypical HOS characteristics, including early-onset sick sinus syndrome (SSS), but no apparent upper limb abnormalities. The proband required a pacemaker implantation at age 44 for SSS and repeated catheter ablation procedures for atrial fibrillation (AF). His daughter experienced AF with pauses, requiring catheter ablation and a pacemaker. Neither exhibited upper limb abnormalities or cardiac structural defects. However, the 28-year-old granddaughter of the proband, who did not undergo genetic testing, had a surgically corrected atrial septal defect at the age of 5. She also exhibits mild shortening of the fifth finger and sinus bradycardia. This study expanded the phenotypic spectrum of HOS, emphasizing the potential for a TBX5 variant to present as familial early-onset SSS without overt skeletal anomalies. These findings highlighted the need for genetic screening for TBX5 variants in cases of early-onset familial SSS and congenital heart defects. Genetic screening may enhance early diagnosis and guide individualized management strategies.
Learning objective
Genetic testing for the TBX5 gene, the causal gene for Holt-Oram syndrome, should be considered in patients with a high prevalence of early-onset familial sick sinus syndrome and history of congenital heart disease. Even in atypical cases without obvious abnormalities of the upper extremities, this could enhance the diagnosis of Holt-Oram syndrome and guide individualized management strategies.
{"title":"Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469*","authors":"Yoshihiro Nomura MD, PhD , Taisuke Ishikawa DVM, PhD , Seiko Ohno MD, PhD , Naomasa Makita MD, PhD , Minoru Horie MD, PhD , Hiroyuki Naruse MD, PhD , Masayuki Koshikawa MD, PhD , Asuka Nishimura MD, PhD , Yuji Motoike MD, PhD , Masahide Harada MD, PhD , Yoshihiro Sobue MD, PhD, FJCC , Eiichi Watanabe MD, PhD , Hideo Izawa MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.03.003","DOIUrl":"10.1016/j.jccase.2025.03.003","url":null,"abstract":"<div><div>Holt-Oram syndrome (HOS; OMIM <span><span>142900</span><svg><path></path></svg></span>) is a rare autosomal dominant disorder, typically involving upper limb anomalies and cardiac septal defects. HOS is caused by mutations in the <em>TBX5</em> gene, which encodes a T-box transcription factor. We report a Japanese family with a novel <em>TBX5</em>-Q469* nonsense variant that exhibited atypical HOS characteristics, including early-onset sick sinus syndrome (SSS), but no apparent upper limb abnormalities. The proband required a pacemaker implantation at age 44 for SSS and repeated catheter ablation procedures for atrial fibrillation (AF). His daughter experienced AF with pauses, requiring catheter ablation and a pacemaker. Neither exhibited upper limb abnormalities or cardiac structural defects. However, the 28-year-old granddaughter of the proband, who did not undergo genetic testing, had a surgically corrected atrial septal defect at the age of 5. She also exhibits mild shortening of the fifth finger and sinus bradycardia. This study expanded the phenotypic spectrum of HOS, emphasizing the potential for a <em>TBX5</em> variant to present as familial early-onset SSS without overt skeletal anomalies. These findings highlighted the need for genetic screening for <em>TBX5</em> variants in cases of early-onset familial SSS and congenital heart defects. Genetic screening may enhance early diagnosis and guide individualized management strategies.</div></div><div><h3>Learning objective</h3><div>Genetic testing for the <em>TBX5</em> gene, the causal gene for Holt-Oram syndrome, should be considered in patients with a high prevalence of early-onset familial sick sinus syndrome and history of congenital heart disease. Even in atypical cases without obvious abnormalities of the upper extremities, this could enhance the diagnosis of Holt-Oram syndrome and guide individualized management strategies.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 10-14"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ventricular fibrillation (VF) storm is a life-threatening condition that is particularly challenging to manage when resistant to conventional therapies such as antiarrhythmic drugs, deep sedation, overdrive pacing, and hemodynamic support. We report a case of a 55-year-old male with ischemic heart disease and recurrent VF storm unresponsive to initial treatments, requiring percutaneous cardiopulmonary support to stabilize hemodynamics. A left ventricular inferoseptal Purkinje-related premature ventricular contraction (PVC) was identified as the VF trigger, with continuous propagating activity involving Purkinje and myocardial substrates as the driver. Targeted radiofrequency catheter ablation (RFCA) at the earliest activation site of the triggering PVC and continuous propagating activity effectively suppressed VF and maintained stable sinus rhythm. The patient was successfully weaned off support devices and was discharged with an implantable cardioverter-defibrillator. This case highlights the importance of accurately localizing triggers and drivers in refractory VF management and suggests the efficacy of RFCA in managing VF storm associated with structural heart disease.
Learning objective
1. The origin and exit of the Purkinje-related triggering premature ventricular contraction (PVC) differed. 2. During initiation of ventricular fibrillation (VF), the Purkinje and myocardial potentials fused, exhibiting continuous propagating activity in the limited area surrounding the origin and exit of the triggering PVC. 3. Radiofrequency catheter ablation targeting both the triggering PVC and continuous propagating activity demonstrated notable efficacy in the suppression of the VF storms.
{"title":"Successful catheter ablation targeting triggering premature ventricular contractions and continuous propagating activity: Suppression of ventricular fibrillation storms in ischemic cardiomyopathy","authors":"Naoko Miyazaki MD , Atsushi Doi MD, PhD , Takayuki Yamada MD , Nobuaki Tanaka MD","doi":"10.1016/j.jccase.2025.03.008","DOIUrl":"10.1016/j.jccase.2025.03.008","url":null,"abstract":"<div><div>Ventricular fibrillation (VF) storm is a life-threatening condition that is particularly challenging to manage when resistant to conventional therapies such as antiarrhythmic drugs, deep sedation, overdrive pacing, and hemodynamic support. We report a case of a 55-year-old male with ischemic heart disease and recurrent VF storm unresponsive to initial treatments, requiring percutaneous cardiopulmonary support to stabilize hemodynamics. A left ventricular inferoseptal Purkinje-related premature ventricular contraction (PVC) was identified as the VF trigger, with continuous propagating activity involving Purkinje and myocardial substrates as the driver. Targeted radiofrequency catheter ablation (RFCA) at the earliest activation site of the triggering PVC and continuous propagating activity effectively suppressed VF and maintained stable sinus rhythm. The patient was successfully weaned off support devices and was discharged with an implantable cardioverter-defibrillator. This case highlights the importance of accurately localizing triggers and drivers in refractory VF management and suggests the efficacy of RFCA in managing VF storm associated with structural heart disease.</div></div><div><h3>Learning objective</h3><div>1. The origin and exit of the Purkinje-related triggering premature ventricular contraction (PVC) differed. 2. During initiation of ventricular fibrillation (VF), the Purkinje and myocardial potentials fused, exhibiting continuous propagating activity in the limited area surrounding the origin and exit of the triggering PVC. 3. Radiofrequency catheter ablation targeting both the triggering PVC and continuous propagating activity demonstrated notable efficacy in the suppression of the VF storms.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 31-35"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-07-01DOI: 10.1016/j.jccase.2025.04.007
John M. Sousou DO , Kabeer Ali MD , Melville C. O’Brien MD , Jeremy M. Williams DO , Fadi Kandah DO , Francesco Franchi MD
Tirofiban is an intravenous glycoprotein IIb/IIIa inhibitor (GPI) that can be used as a bailout strategy in patients with acute coronary syndrome (ACS) undergoing percutaneous coronary intervention (PCI) with high thrombus burden. A rare complication of this agent is severe thrombocytopenia, with an incidence ranging from 0.1 % to 0.5 %. We present a case of a patient who presented with ACS, underwent PCI, and subsequently developed severe thrombocytopenia within 24 h of receiving tirofiban. Tirofiban-induced thrombocytopenia is a rare immune-mediated condition that significantly heightens the risk of bleeding complications. Management involves immediate cessation of the drug, close monitoring of platelet counts, and supportive care. Platelet transfusion is indicated when the count falls below 10,000/μL, or below 50,000/μL with significant bleeding. This case highlights the need for early identification with routine platelet checks and close monitoring in patients receiving GPIs to prevent severe adverse outcomes, such as life-threatening bleeding or thrombotic events.
Learning objectives
Severe thrombocytopenia is an exceptionally rare but serious complication of tirofiban. Gaining a comprehensive understanding of the role of tirofiban and other glycoprotein IIb/IIIa inhibitors in the management of acute coronary syndrome, along with recognizing potential complications and accurately differentiating drug-induced thrombocytopenia from other causes, is essential to prevent life-threatening outcomes.
{"title":"Severe tirofiban-induced thrombocytopenia following percutaneous coronary intervention","authors":"John M. Sousou DO , Kabeer Ali MD , Melville C. O’Brien MD , Jeremy M. Williams DO , Fadi Kandah DO , Francesco Franchi MD","doi":"10.1016/j.jccase.2025.04.007","DOIUrl":"10.1016/j.jccase.2025.04.007","url":null,"abstract":"<div><div>Tirofiban is an intravenous glycoprotein IIb/IIIa inhibitor (GPI) that can be used as a bailout strategy in patients with acute coronary syndrome (ACS) undergoing percutaneous coronary intervention (PCI) with high thrombus burden. A rare complication of this agent is severe thrombocytopenia, with an incidence ranging from 0.1 % to 0.5 %. We present a case of a patient who presented with ACS, underwent PCI, and subsequently developed severe thrombocytopenia within 24 h of receiving tirofiban. Tirofiban-induced thrombocytopenia is a rare immune-mediated condition that significantly heightens the risk of bleeding complications. Management involves immediate cessation of the drug, close monitoring of platelet counts, and supportive care. Platelet transfusion is indicated when the count falls below 10,000/μL, or below 50,000/μL with significant bleeding. This case highlights the need for early identification with routine platelet checks and close monitoring in patients receiving GPIs to prevent severe adverse outcomes, such as life-threatening bleeding or thrombotic events.</div></div><div><h3>Learning objectives</h3><div>Severe thrombocytopenia is an exceptionally rare but serious complication of tirofiban. Gaining a comprehensive understanding of the role of tirofiban and other glycoprotein IIb/IIIa inhibitors in the management of acute coronary syndrome, along with recognizing potential complications and accurately differentiating drug-induced thrombocytopenia from other causes, is essential to prevent life-threatening outcomes.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 47-50"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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